Thalassaemia mainly affects people of Mediterranean, South Asian, Southeast Asian and Middle Eastern origin.
There are a number of types of thalassaemia, which can be divided into alpha and beta thalassaemias.
Beta thalassaemia major is the most severe type. Other types include beta thalassaemia intermedia, alpha thalassaemia major and haemoglobin H disease.
It's also possible to be a "carrier" of thalassaemia, also known as having the thalassaemia trait.
Thalassaemia carriers don't have any serious health problems themselves, but are at risk of having children with the condition.
Some types of thalassaemia may be picked up during newborn blood spot screening (heel prick test) – although this is rare in Northern Ireland.
Symptoms of thalassaemia
Thalassaemia can cause a wide range of problems. Treatment can help keep many of these problems under control.
Children born with the main type of thalassaemia – beta thalassaemia major – usually develop symptoms a few months after birth.
Less severe types may not cause any noticeable problems until later in childhood or even until adulthood.
If you're a carrier of thalassaemia, you'll usually be healthy and won't have any symptoms.
If you have thalassaemia, you may have some of these symptoms:
Almost everyone with thalassaemia major or other serious types will develop anaemia, which can be life-threatening in severe cases.
In anaemia there are low levels of haemoglobin (a substance that transports oxygen) in the blood.
It typically causes:
- tiredness (fatigue) and a general lack of energy
- shortness of breath
- noticeably pounding, fluttering or irregular heartbeats (palpitations)
- pale skin
- yellowing of the skin and eyes (jaundice)
Frequent blood transfusions will usually be needed for life to stop anaemia becoming severe.
Excess iron levels
Most people with thalassaemia major or other severe types will also be at risk of developing a range of problems caused by a build-up of iron in the body. It's usually a side effect of repeated blood transfusions,
Too much iron in the body can cause:
- heart problems – including problems affecting the heart muscle (cardiomyopathy), an irregular heartbeat and heart failure
- swelling and scarring of the liver (cirrhosis)
- early or delayed puberty
- low levels of oestrogen (female hormone) or testosterone (male hormone)
- problems with the thyroid gland (hypothyroidism) and parathyroid glands (hypoparathyroidism)
Lifelong treatment with medication to stop iron building up to harmful levels will usually be needed. This is known as chelation therapy.
Thalassaemia major or other severe types can also sometimes cause a number of other problems, including:
- delayed growth during childhood
- gallstones (small stones in the gallbladder), which can cause inflammation of the gallbladder (cholecystitis), tummy (abdominal) pain and jaundice
- unusual bone growth, such as an enlarged forehead or cheeks
- weak, fragile bones (osteoporosis)
- reduced fertility – some people with thalassaemia may need fertility treatment to help them have children
Causes of thalassaemia
Thalassaemia is caused by faulty genes that affect the production of haemoglobin.
A child can only be born with the condition if they inherit these faulty genes from both parents.
For example, if both parents have the faulty gene that causes beta thalassaemia major, there's a 25 per cent chance of each child they have being born with the condition.
The parents of a child with the condition are usually carriers of thalassaemia. This means they only have one of the faulty genes that causes the condition.
Treatments for thalassaemia
People with thalassaemia major or other serious types will need specialist care throughout their lives.
The main treatments are:
- blood transfusions – regular blood transfusions are given to treat and prevent anaemia; in severe cases these are needed around once a month
- chelation therapy – treatment with medications to remove the excess iron from the body that builds up as a result of having regular blood transfusions (some people experience a build-up of iron even without transfusions and need treatment for this)
Eating a healthy diet, doing regular exercise and not smoking or drinking excessive amounts of alcohol can also help to make sure you stay as healthy as possible.
The only possible cure for thalassaemia is a stem cell or bone marrow transplant. But this isn't done very often because of the significant risks involved.
Outlook for thalassaemia
Although the main problems associated with thalassaemia can often be managed with treatment, it's still a serious condition that can have a significant impact on a person's life.
Even in mild cases with few symptoms, there's still a risk you could pass on a more serious form of the condition to your children.
Without close monitoring and regular treatment, the most severe types can cause serious organ damage and can be life-threatening.
In the past, severe thalassaemia was often fatal by early adulthood. But with current treatments, average life expectancy is expected to increase significantly, with people likely to live into their 50s, 60s and beyond.